Term Name: Kenny-Caffey syndrome type 1
Synonyms:
Definition: A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
Ontology: Human Disease [DOID:0080722]   ( DOID:0080722 )

Relationships
is a type of: autosomal recessive disease Kenny-Caffey syndrome